Differences in velopharyngeal pressures during speech sound production in patients with unilateral cleft lip and palate (UCLP) and healthy individuals.

Background: During articulation the velopharynx needs to be opened and closed rapidly and a tight closure is needed. Based on the hypothesis that patients with cleft lip and palate (CLP) produce lower pressures in the velopharynx than healthy individuals, this study compared pressure profiles of the velopharyngeal closure during articulation of different sounds between healthy participants and patients with surgically closed unilateral CLP (UCLP) using high resolution manometry (HRM). Materials and methods: Ten healthy adult volunteers (group 1: 20-25.5 years) and ten patients with a non-syndromic surgically reconstructed UCLP (group 2: 19.1-26.9 years) were included in this study. Pressure profiles during the articulation of four sounds (/i:/, /s/, /ʃ/ and /n/) were measured by HRM. Maximum, minimum and average pressures, time intervals as well as detection of a previously described 3-phase-model were compared. Results: Both groups presented with similar pressure curves for each phoneme with regards to the phases described and pressure peaks, but differed in total pressures. An exception was noted for the sound /i:/, where a 3-phase-model could not be seen for most patients with UCLP. Differences in velopharynx pressures of 50% and more were found between the two groups. Maximum and average pressures in the production of the alveolar fricative reached statistical significance. Conclusions: It can be concluded that velopharyngeal pressures of patients with UCLP are not sufficient to eliminate nasal resonance or turbulence during articulation, especially for more complex sounds. These results support a general understanding of hypernasality during speech implying a (relative) velopharyngeal insufficiency.

[Clinical Characteristics Analysis of 1051 Cases of Cleft Lip With/Without Cleft Palate in the Ethnic Tibetan Population]. / 1051ä¾‹è—æ—å”‡è ­è£‚æ‚£è€ ä¸´åºŠç‰¹å¾åˆ†æž.

Objective: To examine the characteristics of the prevalence of congenital cleft lip with/without cleft palate in the ethnic Tibetan population and to provide support for the precise prevention and treatment of cleft lip with/without cleft palate in the Tibetan population. Methods: The clinical data of Tibetan patients with cleft lip with/without cleft palate were collected and the clinical characteristics of the patients were analyzed. The patients' age ranged from 2 months to 51 years old. All the subjects were admitted to West China Stomatology Hospital, Sichuan University for the treatment of cleft lip with/without cleft palate between January 2016 and August 2023. Most of the subjects came from Sichuan Province and the Tibet Autonomous Region. Results: A total of 1051 patients were enrolled and children aged under 12 months (460 cases) accounted for the largest proportion. Among the subjects, 383 had cleft lip only (36.44%), 140 had cleft palate only (13.32%), and 528 had cleft lip with cleft palate (50.24%). The male-to-female ratios of patients with cleft lip only (0.99∶1), cleft palate only (0.54∶1), and cleft lip with cleft palate (1.67∶1) exhibited significant differences (P<0.001). However, there was no significant difference in the male-to-female ratio in patients with cleft lip only or those with cleft lip with cleft palate when the subjects were divided into two groups according to whether they had unilateral or bilateral cleft lip with/without cleft palate. Most of the patients with bilateral cleft lip were female, while most of the patients with unilateral cleft lip and unilateral or bilateral cleft lip with cleft palate were male. The unilateral cleft lip with/without cleft palate was located predominantly on the left side. Syndromic cleft lip with/without cleft palate accounted for 3.43% of all the cases and the most common concomitant deformity was congenital heart disease. 3.81% (40 cases) of the patients had a family history. In the patients with cleft lip only and those with cleft palate only, the proportion of patients having parents with corresponding phenotypes was higher than those of other phenotypes of cleft lip with/without cleft palate. Regarding the birth time distribution of the children with cleft lip with/without cleft palate, Spring saw the highest number of births of these children (311 cases, 29.59%), while Winter saw the lowest number of births (231 cases, 21.98%). Conclusion: The cases of cleft lip with/without cleft palate in the ethnic Tibetan population are predominantly cleft lip and palate. Unilateral cleft lip only or cleft lip with palate is predominantly located on the left side. Lip disease phenotypes may be more heritable.

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction.

PURPOSE: Recent studies have suggested that children with an isolated cleft lip (CL) are more likely to develop middle ear disease and eustachian tube dysfunction (ETD) compared to the general population. This may be related to abnormal palatal musculature or an undiagnosed submucosal cleft palate (SMCP). We aim to determine the prevalence of SMCP in patients with CL who exhibit ETD. MATERIALS AND METHODS: A retrospective chart review was performed for children with an isolated CL requiring tympanostomy tubes over a 20-year period at an academic tertiary care medical center. Demographic, clinical, and surgical data were collected. RESULTS: Three hundred twelve patients had an isolated CL, and 29 (9.3 %) children required tympanostomy tubes. Of those, nine (31 %) were found to have a SMCP (7 males, 6 Caucasian). The average age at CL repair was 3.94 ± 1.03 months, and the average age at tympanostomy tube placement was 13.68 ± 13.8 months. All nine patients had chronic otitis media, with four having mild conductive hearing loss and three having moderate conductive hearing loss. The SMCP was diagnosed at the time of CL diagnosis (4), after CL diagnosis with the diagnosis of chronic otitis media/ETD (2) and after a diagnosis of chronic otitis media/ETD. CONCLUSION: Middle ear disease or eustachian tube dysfunction in a patient with an isolated cleft lip should raise suspicion for an accompanying undiagnosed SMCP.

Evaluation of maxillary arch symmetry in cleft patients undergoing orthodontic treatment: a comparative study.

OBJECTIVE: Patients with a cleft require structured procedures to achieve feasible treatment results. Since many treatment protocols coexist without being superior to one another, this study investigated the Saarland University Hospital treatment concept for patients with unilateral and bilateral clefts to evaluate its effects upon dental arch dimensions until the early mixed dentition. MATERIAL AND METHODS: Digitized plaster models were used for data collection. Records of 83 patients (Cleft n = 41 [UCLP n = 28, BCLP n = 13], Non-Cleft Control n = 42) comprised 249 casts. The evaluation included established procedures for measurements of edentulous and dentate jaws. Statistics included Shapiro-Wilk, Friedmann, Wilcoxon and Mann-Whitney-U-Tests for the casts. The level of significance was set at p < 0.05. RESULTS: The cast analysis showed an approximation of arch dimensions towards those of age-matched patients without a cleft until early mixed dentition. The mean values of patients with and without cleft lip and palate were almost indistinguishable when compared in primary and/or early mixed dentition. CONCLUSIONS: The evaluated treatment concept leads to feasible outcomes regarding dental arches in patients with unilateral and bilateral clefts compared to an age-matched non-cleft control. CLINICAL RELEVANCE: The evaluated treatment concept leads to favorable outcomes until early mixed dentition.

Investigation of the effectiveness of articulation therapy through tele-practice on children with cleft palate in Khuzestan Province during COVID-19 pandemic.

INTRODUCTION: A cleft palate is a common type of facial malformation. Compensatory articulation errors are one of the important causes of unclear speech in children with cleft palate. Tele-practice (TP) helps to connect therapists and clients for assessment and therapy. Our goal is to investigate the effectiveness of articulation therapy through tele-practice on cleft palate children in Khuzestan Province during the COVID-19 pandemic. MATERIALS & METHODS: Before starting the treatment, a 20-min speech sample was recorded individually from all the children. Speech intelligibility and the percentage of correct consonants were assessed for each speech sample. The control group received treatment sessions in person at the cleft palate center, and the other group received treatment via tele-practice using the ZOOM platform. Treatment sessions were provided in the form of 45-60-min group sessions, twice a week, for 5 weeks (10 sessions in total). After 10 treatment sessions, the speech sample was recorded again. The level of parental satisfaction was measured using a Likert 5-level survey. RESULTS: The mean score of intelligibility of the two groups decreased (-1.4400 and 0.7200). The two groups' mean percentage of correct consonants increased. (26.09 and 17.90). In both groups, the mean score of parents' satisfaction with the treatment was high (3.44 and 3.84). The mean of difference before and after the speech intelligibility and the percentage of correct consonants variables in both groups was statistically significant (P = 0.001 and P = 0.002, respectively). In both groups, the satisfaction variable was not associated with a statistically significant difference (P = 0.067). CONCLUSION: The effectiveness of in-person therapy over a certain period of time is higher than tele-practice. Nevertheless, the results demonstrated an increase in the intelligibility of speech and the percentage of correct consonants in both groups, thus proving the effectiveness of articulation therapy in correcting compensatory articulation errors in children with cleft palate through in-person and tele-practice.

Nasal airway obstruction in patients with cleft lip nasal deformity: A systematic review.

BACKGROUND: Cleft lip nasal deformity (CLND)-associated nasal airway obstruction (CL-NAO) may be inadequately characterized, with its functional implications subsequently underappreciated and neglected. The purpose of this systematic review is to (1) summarize the available assessment results in CL-NAO, (2) evaluate the reliability of current assessment tools, and (3) identify ongoing gaps and inconsistencies for future study. METHODS: A systematic search of the MEDLINE, EMBASE, and Scopus databases was performed for articles studying CL-NAO. Articles focusing on noncleft populations or surgical techniques were excluded. Extracted data included information about study design, patient demographics, medical history, and assessment scores. RESULTS: Twenty-six articles met criteria for inclusion. Assessments included patient-reported outcome measures (PROMs), anatomic characterizations of CLND, and nasal airflow and resistance studies. Objective assessments were generally more reliable than subjective assessments in CLND. Unilateral CLND was better represented in the literature than bilateral CLND. For unilateral CLND, the cleft side was more obstructed than the noncleft side, with stereotyped patterns of anterior nasal deformity but varied middle and posterior deformity patterns. Overall, there was considerable heterogeneity in study design regarding stratification of CLND cohorts by age, cleft phenotype and laterality, and surgical history. CONCLUSIONS: A wide range of subjective and objective assessment tools were used to characterize CL-NAO, including PROMs, anatomic measurements, and airflow and resistance metrics. Overall, objective assessments of CL-NAO were more reliable than subjective surveys, which may have resulted from variable expectations regarding nasal patency in the CLND population combined with large heterogeneity in study design.

Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis.

The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non-specific of the association of orofacial cleft with CHD were excluded. Data extraction criteria were study design, frequency of CHD in overall non-syndromic orofacial cleft and in specific cleft type, and most prevalent congenital cardiac anomaly. DerSimonian Laird random effects model was used to estimate the pooled proportion of CHD, along with corresponding 95% confidence intervals (CIs) for each measure. Publication bias was assessed using Fail-Safe N analysis and the Rosenthel approach. Of a total of 182 articles searched, only 30 studies were assessed. The overall pooled estimate of the proportion of CHD in total cleft lips/palates was 16% (95% CI: 13-19). The odds of developing CHD in cleft palates was 4.08 times more as compared to cleft lips with 95% CIs of 3.86-4.33, and 1.65 more as compared to cleft lips and palates both with 95% CI of 1.52-1.68. We affirm the upsurging prevalence of CHD in non-syndromic cleft children and vehemently propose that it is of utmost importance to inculcate it in practice and policy-making to screen all non-syndromic orofacial cleft children for congenital cardiac anomaly. This study was registered on PROSPERO (ID no. CRD42023391597) on February 24, 2023.

Improvement in nasal airway obstruction after secondary rhinoplasty for cleft lip: A systematic review.

BACKGROUND: The purpose of the study was to comprehensively review the improvement in nasal airway obstruction after secondary rhinoplasty for cleft lip. METHODS: The search was conducted on PubMed, Embase, and Scopus databases for relevant studies published within the past twenty years. Inclusion criteria encompassed patients undergoing secondary rhinoplasty with cleft lip nasal deformity and some evaluation of the nasal outcome. RESULTS: A thorough analysis of available studies identified 29 articles that met the inclusion criteria for final assessment. Seven (24.1%) studies were classified as Therapeutic Ⅱ (T II) according to the American Society of Plastic Surgeons level of evidence scale, while the majority were categorized as T III (17.2%), T IV (51.7%), and T V (6.9%). Subjective methods were employed in 21 articles to measure nasal ventilation outcomes, whereas 8 studies utilized objective methods. Overall findings from all included studies consistently indicated an improvement in nasal ventilation post-surgery. CONCLUSIONS: Although there is no consensus regarding the impact of secondary rhinoplasty on nasal airway obstruction in cleft lip patients, this review suggests that it can effectively alleviate such obstructions. We conducted an anatomical analysis to investigate the impact of various surgical techniques on nasal ventilation to provide recommendations for postoperative ventilation assessment.

The Association of Speech/Language Risk With Phonological Awareness, Rapid Naming, and Reading Ability in Children With Cleft Lip and/or Palate.

Children with cleft lip and/or palate were assessed for speech, language, phonological awareness (PA), rapid naming (RN) and reading ability using standardized instruments at baseline (T1; N = 142, Mage = 6.14 years, 51% males) and 2-year follow-up (T2; 89% retention, Mage = 8.38). Children with no speech or language risk scored higher for T1 and T2 PA, RN, and reading than children with both speech and language risk [Adjusted Mean Difference (AMD) ranged from 11.79 to 21.25]; language risk (AMD 8.37 to 13.58); and speech risk (0.51 to 6.87). No significant differences by cleft type or child sex.

Mandibular condyle volumes are associated with facial asymmetry in patients with cleft lip and palate: A retrospective cohort study.

This study compares condylar volumetric asymmetry and facial asymmetry in patients with cleft lip and/or palate (CLP) and controls. The mandibular condyle is important to facial growth, but its role in facial asymmetry for those with CLP has not been described. Condylar volumes and mandibular asymmetry were retrospectively calculated using Mimics Version 23.0 (Materialise, Leuven, Belgium) from patients with CLP undergoing computed tomography (CT) imaging and a cohort of controls. A total of 101 participants, 60 with CLP and 41 controls, had mean condylar volumetric asymmetry of 16.4 ± 17.4 % (CLP) and 6.0 ± 4.0 % (controls) (p = 0.0002). Patients with CLP who had clinically significant chin deviation (>4 mm) had more asymmetric condyles than those without significant chin deviation (p = 0.003). The chin deviated toward the smaller condyle in patients with facial asymmetry more often than in patients without facial asymmetry (81 % vs. 62 %, p = 0.033). While controls had some degree of condylar asymmetry, it tended to be milder and not associated with facial asymmetry. There is a greater degree of condylar volumetric asymmetry in patients with CLP compared to individuals in the general population. Clinically significant facial asymmetry in CLP is associated with a higher degree of condylar asymmetry, with the facial midline deviating toward the smaller condyle.

Surgical treatment of velopharyngeal dysfunction: Incidence and associated factors in the Swedish cleft palate population.

INTRODUCTION: Speech in children with cleft palate can be affected by velopharyngeal dysfunction, which persists after primary palate repair. The incidence of surgery to correct velopharyngeal dysfunction in this patient group has previously been reported as 2.6-37%. We aimed to investigate the incidence of velopharyngeal dysfunction surgery in Swedish children with cleft palate and to examine potential associations of independent variables with this incidence. METHODS: In this cohort study, we analysed data from the Swedish cleft lip and palate quality registry for 1093 children with cleft palate with or without cleft lip. Kaplan-Meier analysis was used to estimate the risk of having velopharyngeal dysfunction surgery. Multivariable Cox proportional hazards models were used to estimate the associated effect of cleft subtype, additional diagnoses, gender, and age at and number of stages for primary palate repair on the primary outcome. RESULTS: The risk of having velopharyngeal dysfunction surgery was 25.6%. Complete primary palate repair after the age of 18 months or in more than one stage was associated with a higher risk, but it could not be determined which of these was the more significant factor. Cleft soft palate was associated with a significantly lower risk than other cleft subtypes. CONCLUSIONS: Primary palate repair at a higher age or in more than one stage may increase the risk of having velopharyngeal dysfunction surgery. Further analysis of potential unknown confounding factors and the association between the incidence of velopharyngeal dysfunction and surgery to correct this condition is needed.

Stem Cell-Based Regenerative Approaches for the Treatment of Cleft Lip and Palate: A Comprehensive Review.

Cleft lip and/or palate (CLP) is a prevalent congenital craniofacial abnormality that can lead to difficulties in eating, speaking, hearing, and psychological distress. The traditional approach for treating CLP involves bone graft surgery, which has limitations, post-surgical complications, and donor site morbidity. However, regenerative medicine has emerged as a promising alternative, employing a combination of stem cells, growth factors, and scaffolds to promote tissue regeneration. This review aims to provide a comprehensive overview of stem cell-based regenerative approaches in the management of CLP. A thorough search was conducted in the Medline/PubMed and Scopus databases, including cohort studies, randomized controlled trials, case series, case controls, case reports, and animal studies. The identified studies were categorized into two main groups: clinical studies involving human subjects and in vivo studies using animal models. While there are only a limited number of studies investigating the combined use of stem cells and scaffolds for CLP treatment, they have shown promising results. Various types of stem cells have been utilized in conjunction with scaffolds. Importantly, regenerative methods have been successfully applied to patients across a broad range of age groups. The collective findings derived from the reviewed studies consistently support the notion that regenerative medicine holds potential advantages over conventional bone grafting and represents a promising therapeutic option for CLP. However, future well-designed clinical trials, encompassing diverse combinations of stem cells and scaffolds, are warranted to establish the clinical efficacy of these interventions with a larger number of patients.

Structural Approach to Secondary Repair of the Unilateral Cleft Lip Nasal Deformity.

SUMMARY: Management of the unilateral cleft lip nasal deformity is complex because of the underlying significant asymmetry of the lower lateral cartilages and soft tissues of the nasal base. Suturing and grafting techniques may leave the patient with residual asymmetries of the nasal tip and nostrils. Some of this residual asymmetry may be attributable in part to the anchoring effect of the vestibular skin attachments to the lower lateral cartilages. This article discusses the use of lateral crural release, repositioning, and support with lateral crural strut grafts to manage the nasal tip. The technique involves freeing the vestibular skin from the undersurface of the lateral crura and domes and placement of lateral crural strut grafts with or without amputation of the ipsilateral dome and lateral crura to allow precise resuturing to the caudal septal extension graft. This technique is coupled with the use of a caudal septal extension graft to stabilize the nasal base and provide a strong foundation for the repair. Treatment of the nasal base may require skeletal augmentation to aid in creating symmetry of the alar insertions. Costal cartilage is needed in most cases to provide adequate structural support. Nuances in technique are discussed to help maximize outcomes.

Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.

PURPOSE: Facial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study was to determine the accuracy of prenatal ultrasound in correctly classifying facial clefts. Furthermore, we aimed to specify the distribution of the type of clefts and underlying genetic conditions. METHODS: All fetuses seen with suspected facial cleft in the Department of Obstetrics, Charité - Universitätsmedizin Berlin during a period of 23 years (1999-2022) were included in this retrospective study. Clefts were classified according to the classification of Nyberg. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: 292 patients were included in the study. The most common type of clefts were unilateral cleft lip and palate (CL-P) (53.6%) and bilateral CL-P (30.6%), followed by CL (8.1%), CP (5.1%) and median CL-P (2.6%). The overall pre- and postnatal concordance rate corresponding to a correct prenatal diagnosis was high, 88.9%, ranging from 73.7% (CL) to 93.7% (unilateral CL-P). Most of the median clefts (95.2%) and CP (93.3%) were associated with other sonographic abnormalities, as well as 52.2% of bilateral CL-P. Chromosomal abnormalities, mostly trisomy 13 and trisomy 18, were observed in in the median CL-P (47.6%), bilateral CL-P (31.1%) and CP (26.7%) groups, in contrast to the CL (9.1%) and unilateral CL-P (12.9%) groups. It was exceptional to have a chromosomal abnormality without additional malformations (4.8%). The mortality rate including one late miscarriage, 5 IUFD's, 74 TOPs and 6 palliative cares at birth was 29.8%, particularly high for median clefts (90.5%). CONCLUSION: Prenatal ultrasound exhibited a high accuracy to assess the type of facial clefts with an average rate of 88.9% (73.7%-93.7%) and a concordance rate of up to 93.7%, depending on the type of cleft. The search for additional malformations as well as clarifying underlying genetic conditions is essential. This allows for a targeted counseling of the parents and to best prepare for postnatal care, including surgery by the maxillofacial team.

Oral flora and functional dysbiosis of cleft lip and palate patients: A scoping review.

AIMS: This scoping review aimed to conduct an assessment of the current literature on specific ecological changes in the oral microbiota of individuals living with cleft lip and/or palate. METHODS: All studies that assess oral microbiota and ecological changes distinct of individuals living with cleft lip and/or palate were included. Ovid MEDLINE and EMBASE databases were used, using planned search keywords. Included articles were grouped into cohort, cross-sectional, case-control, and retrospective reviews. RESULTS: A total of 164 eligible title articles were recognized. Of these, 32 full-text studies were included in the present review. All the included articles were published between 1992 and 2022. These studies were two retrospective studies, two review studies, and the remaining (n = 28) were observational studies. CONCLUSION: The oral flora of cleft lip and/or palate patients has been shown in scientific studies to have an increased frequency of potentially pathogenic fungal and bacterial colonization, particularly Candida species, Staphylococcus aureus, Lactobacili and Streptococci mutans. This may influence oral diseases and post-operative repair complications, potentially necessitating further surgical intervention.

Prosthetic rehabilitation of a patient with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome through a hybrid workflow: A case report with 2-year follow-up.

AIM: Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands. Prosthetic rehabilitation of patients with EEC syndrome is essential towards improving their overall quality of life. METHODS AND RESULTS: In the case shown, a telescopic retained overdenture was made on the lower jaw based on digital impression of a patient with EEC syndrome associated with cleft lip and cleft palate. Due to the congenital anomalies and limited mouth opening, the impression was taken with intraoral scanner, and after designing the telescopes on the digital model, the primary and secondary telescopes were confectioned by selective laser sintering. CONCLUSION: Combining digital dental technology and conventional clinical prosthetic treatment methods, results in a well-functioning overdenture even in such complicated situations. The prosthodontic rehabilitation of patients with ECC helps to restore the masticatory and phonetic functions, increases the patient's self-esteem, and prevents further psychological trauma caused by hypodontia.

A New Algorithm for Secondary Repair of Unilateral Cleft Lip Nasal Deformity.

OBJECTIVES: Following primary surgery for unilateral cleft lip palate (UCLP), cleft lip nasal deformities (CLNDs) (nasal asymmetry, collapsed nasal alae, and a widened alar base) are generally inevitable and often require secondary rhinoplasty. However, reconstructing a cleft nose with an alar tissue deficiency remains challenging for rhinoplasty surgeons. METHODS: The manifestations of common deformities are described herein, and a secondary rhinoplasty technique for unilateral CLNDs using a nasolabial flap (NLF) has been proposed for patients with alar tissue deficiency. Secondary rhinoplasties were performed in 12 patients with unilateral CLNDs between 2020 and 2021 using a NLF. Photogrammetric measurements were performed preoperatively and postoperatively. A total of 12 flaps were successfully transferred. Ten patients were followed up for >1 year. RESULTS: Significant postoperative decreases in nasal alar width were measured in both the base view (p < 0.050) and the frontal view (p < 0.050). Despite the additional facial scars that occurred in some cases, all patients were satisfied with the aesthetic effects. CONCLUSIONS: The NLF achieved satisfactory results in secondary rhinoplasty of unilateral CLND for patients with nasal tissue deficiencies in whom the surgeon weighed the potential benefits over postoperative scarring. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:1648-1655, 2024.

Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.

Chikungunya virus antepartum transmission and abnormal infant outcomes in a cohort of pregnant women in Nigeria.

OBJECTIVES: Chikungunya virus (CHIKV), a reemerging global public health concern, which causes acute febrile illness, rash, and arthralgia and may affect both mothers and infants during pregnancy. Mother-to-child transmission (MTCT) of CHIKV in Africa remains understudied. METHODS: Our cohort study screened 1006 pregnant women with a Zika/dengue/CHIKV rapid test at two clinics in Nigeria between 2019 and 2022. Women who tested positive for the rapid test were followed through their pregnancy and their infants were observed for 6 months, with a subset tested by reverse transcription-polymerase chain reaction (RT-PCR) and neutralization, to investigate seropositivity rates and MTCT of CHIKV. RESULTS: Of the 1006, 119 tested positive for CHIKV immunoglobulin (Ig)M, of which 36 underwent detailed laboratory tests. While none of the IgM reactive samples were RT-PCR positive, 14 symptomatic pregnant women were confirmed by CHIKV neutralization test. Twelve babies were followed with eight normal and four abnormal outcomes, including stillbirth, cleft lip/palate with microcephaly, preterm delivery, polydactyly with sepsis, and jaundice. CHIKV IgM testing identified three possible antepartum transmissions. CONCLUSION: In Nigeria, we found significant CHIKV infection in pregnancy and possible CHIKV antepartum transmission associated with birth abnormalities.